Gene therapy: ‘Now I can see my own face again

Jake Ternent has been gradually losing his central vision since birth, because of a rare inherited genetic eye condition. And, despite the pandemic, 2020 was a landmark year for the 24-year-old, from County Durham, who became the first person in the UK to receive a revolutionary new gene therapy on the NHS.

His condition – leber congenital amaurosis (LCA) – is caused by having two faulty copies of a gene called RPE65, which is essential for maintaining healthy photoreceptor cells in the retina. In 2019 the NHS agreed to fund the treatment, Luxturna, the first in a new generation of gene therapies for conditions causing blindness. It costs about £600,000 per patient to treat both eyes, though the NHS has agreed a confidential discount with the makers Novartis.

How the therapy works
The injection delivers working copies of a faulty gene, RPE65, into the retina at the back of the eye. The DNA is encased in a harmless virus which breaks into the retinal cells. Once inside the nucleus, the replacement gene kick-starts production of the RPE65 protein essential for healthy vision.

Making a real difference’
Prof James Bainbridge, Jake’s surgeon at Moorfields, says the results from the first patients are encouraging. “It’s fantastic to see these people reporting improvements even weeks after the surgery. It is making a real difference to their lives, and the hope is that these benefits will last for many years or even their lifetime.” And he says it offers potential for other conditions. “Until quite recently we’ve had very little to offer people with inherited blindness, but this is really transformational. It provides an opportunity to provide hope for people not only with this specific condition, but people with other similar disorders, that they can protect their sight in the long term.

Published by charlesghose

Charles Ghose graduated the University Of Greenwich London with a BA in Communications and Media. His university life was very enriched by his very active participation in various University societies. Charles ran the gamut of campus student communities; he was involved with the Politics and Debate Societies, Students Union, and University Of Greenwich Choir, and chamber choir. Charles Ghose acts as an independent contractor working in the very lucrative Freelance Translator Field. He has been hired by various International Humanitarian NGO's, private corporations, and The Overseas Fellowship Mission. Charles has also lead workshops for employers on the theme of mindfulness training courses for the improvement of employee’s health and well-being. Charles is a strong believer that a happy work force adds to higher productivity and loyalty to a company by employees.

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